| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 7 | 100374211 | missense variant | A/C;G | snv | 4.0E-06; 0.65 |
|
0.720 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.882 | 0.200 | 3 | 10039759 | synonymous variant | T/C | snv | 4.0E-05 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 |
|
0.830 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 1004711 | missense variant | C/T | snv | 0.44 | 0.46 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.200 | 3 | 10049416 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.925 | 0.120 | 19 | 1005231 | missense variant | C/T | snv | 0.36 | 0.41 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | X | 100589509 | intron variant | G/T | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 3 | 10065441 | frameshift variant | TT/- | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 2 | 100698011 | intergenic variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 7 | 100891280 | missense variant | C/T | snv | 1.7E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 100925227 | intron variant | T/C | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 8 | 100949682 | intron variant | T/C | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.160 | 12 | 10159690 | 3 prime UTR variant | G/A | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2010 | |||||||
|
0.851 | 0.160 | 8 | 102296172 | intron variant | A/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.200 | 12 | 102431143 | intron variant | T/C | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 20 | 10245498 | intron variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 12 | 102475727 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 102747187 | intron variant | T/G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 11 | 102835973 | 3 prime UTR variant | C/T | snv | 2.0E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.120 | 10 | 102836092 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2016 |